Mohammad Ali Kiani; Hamidreza Kianifar; Sayyad Ali Jafari; Maryam khalesi; Niloofar Rahimpour; Sayyed Amir Hossein Ghazizadeh Hashemi; Arefeh Abavisani
Abstract
Background: Werner syndrome (WS) is a rare autosomal recessive disorder characterized by premature aging and various metabolic complications. Non-Alcoholic Fatty Liver Disease (NAFLD) ...
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Background: Werner syndrome (WS) is a rare autosomal recessive disorder characterized by premature aging and various metabolic complications. Non-Alcoholic Fatty Liver Disease (NAFLD) is primarily associated with metabolic syndrome, but its occurrence in young patients with WS is rarely reported. We describe the case of a 17-year-old male diagnosed with Werner syndrome who presented with grade 2 NAFLD and elevated liver function tests (LFTs).Case Presentation: A 17-year-old male, born to consanguineous parents, presented with clinical features suggestive of premature aging. Genetic testing confirmed a mutation in the WRN gene, establishing a diagnosis of Werner syndrome. Liver ultrasound revealed grade 2 fatty liver, and liver biopsy confirmed moderate steatohepatitis (activity grade 6, stage 2). Elevated liver enzymes were observed, although other metabolic parameters were within normal limits.Conclusion: This case highlights the importance of recognizing liver involvement in patients with Werner syndrome and underscores the need for routine monitoring and a multidisciplinary approach to management. Genetic counseling is essential for families with consanguineous backgrounds to reduce the risk of autosomal recessive conditions like WS.
